Canonical Allele Identifier: CA1139770838

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371009del , CM000675.2:g.32371009del	GRCh38
NC_000013.10:g.32945146del , CM000675.1:g.32945146del	GRCh37
NC_000013.9:g.31843146del	NCBI36
NG_012772.3:g.60530del , LRG_293:g.60530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8541del	ENSP00000434898.2:p.Glu2848LysfsTer15
ENST00000528762.2:c.8541del	ENSP00000433168.2:p.Glu2848LysfsTer15
ENST00000530893.7:c.8172del	ENSP00000499438.2:p.Glu2725LysfsTer15
ENST00000665585.2:c.8541del	ENSP00000499570.2:p.Glu2848LysfsTer15
ENST00000666593.2:c.8541del	ENSP00000499256.2:p.Glu2848LysfsTer15
ENST00000700202.2:c.8541del	ENSP00000514856.2:p.Glu2848LysfsTer15
ENST00000700202.1:c.1008del	ENSP00000514856.1:p.Glu337LysfsTer15
ENST00000380152.8:c.8541del MANE Select	ENSP00000369497.3:p.Glu2848LysfsTer15
ENST00000544455.6:c.8541del	ENSP00000439902.1:p.Glu2848LysfsTer15
ENST00000614259.2:c.8549del	ENSP00000506251.1:n.8549del
ENST00000665585.1:c.1106del
ENST00000680887.1:c.8541del	ENSP00000505508.1:p.Glu2848LysfsTer15
ENST00000380152.7:c.8541del	ENSP00000369497.3:p.Glu2848LysfsTer15
ENST00000528762.1:c.39del	ENSP00000433168.1:p.Glu14LysfsTer15
ENST00000544455.5:c.8541del	ENSP00000439902.1:p.Glu2848LysfsTer15
NM_000059.3:c.8541del , LRG_293t1:c.8541del	NP_000050.2:p.Glu2848LysfsTer15
XM_011535203.1:c.8541del	XP_011533505.1:p.Glu2848LysfsTer15
XM_011535204.1:c.8445del	XP_011533506.1:p.Glu2816LysfsTer15
XM_011535205.1:c.8541del	XP_011533507.1:p.Glu2848LysfsTer15
NM_000059.4:c.8541del MANE Select	NP_000050.3:p.Glu2848LysfsTer15